Pura Gene

Pura Gene LogoAidan‚Äôs whole exome was sequenced in 2014. We found two genetic mutations, and it’s opened a whole new door for us.

 

 

 

 

 

 

 

Here’s Aidan’s PURA gene:

MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELAS KRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLA QAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAK LIDDYGVEEEPAELPEGTSLTVDSKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAX

Where you have an N, Aidan has an S. These both have similar functions and so this variation may or may not be a problem. However, where you have a K, Aidan has an X. Look what happens after the X. Nothing. X is a genetic stop sign. Aidan has incomplete instructions and that is definitely a problem.

 

For more information check out the Pura Syndrome website and Facebook page.

Posts About Pura:

The Stop Sign in Aidan’s Genes

Pura and Simple

Pura Gene

Pura Gene Community

Happy Birthday

Receiving a Rare Diagnosis – by Sarah Bloom Anderson

My Pura Gene Family in Poetry – by Sarah Bloom Anderson

My Pura Gene Family in Pictures

My Pura Gene Family in Words

Meet Anthony – The Face of Resilience

Meet Audrey – The Face of Light

Meet Aidan РThe Face of Independence 

Meet Kameryn – The Face of Persistence

Meet Eliana – The Face of Joy

Meet Sarah – The Face of Hope